A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family. Issue 4 (5th March 2013)

• Record Type: Journal Article
• Authors: Farooq, Muhammad; Kurban, Mazen; Fujimoto, Atsushi; Fujikawa, Hiroki; Abbas, Ossama; Nemer, Georges; Saliba, Jessica; Sleiman, Rima; Tofaili, Mona; Kibbi, Abdul‐Ghani; Ito, Masaaki; Shimomura, Yutaka
• Is Part Of: Human mutation. Volume 34:Issue 4(2013:Apr.)
• Page Start: 578
• Page End: 581
• Publication Date: 2013-03-05
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22271
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22271-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>In this study, we analyzed a consanguineous Syrian family with an affected girl with pure hair and nail ectodermal dysplasia, which is a rare genetic disorder characterized by alopecia and nail dystrophy since birth. Linkage studies and direct sequencing analysis led to the identification of a homozygous frameshift mutation (c.355delC; p.Leu119Trpfs*20) in the HOXC13 gene of the patient. In vitro studies in cultured cells demonstrated loss of function of the mutant HOXC13 protein. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg1v7r2nj6" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>